Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: Report of 10 mutations

American Journal of Medical Genetics

Volumn 90, Issue 2, 2000, Pages 123-126

  Yamashita, Yokihiko ^a,c   Ono, Jiro ^b   Okada, Shintaro ^b   Wataya Kaneda, Mari ^b   Yoshikawa, Kunihiko ^b   Nishizawa, Masae ^a   Hirayama, Youko ^a   Kobayashi, Etuko ^a   Seyama, Kuniaki ^a,d   Hino, Okio ^a  

^a CANCER INSTITUTE   (Japan)

^b OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c EHIME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Molecular epidemiology; PCR SSCP; TSC1 gene; TSC2 gene; Tuberous sclerosis complex

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JAPAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TUBEROUS SCLEROSIS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENOTYPE; GERM-LINE MUTATION; HUMANS; INFANT; JAPAN; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; REPRESSOR PROTEINS; TUBEROUS SCLEROSIS; TUMOR SUPPRESSOR PROTEINS;

EID: 0034677209     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(20000117)90:2<123::AID-AJMG7>3.0.CO;2-L     Document Type: Article

References (13)

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